AutismKB 2.0

Annotation Detail for COL9A2


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Basic Information Top
Gene Symbol:COL9A2 ( DJ39G22.4,EDM2,MED )
Gene Full Name: collagen, type IX, alpha 2
Band: 1p34.2
Quick LinksEntrez ID:1298; OMIM: 120260; Uniprot ID:CO9A2_HUMAN; ENSEMBL ID: ENSG00000049089; HGNC ID: 2218
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body1 / 7076114
blastocyst3 / 6231948
fetus45 / 56401279
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult45 / 193912123
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor6 / 26384522
glioma3 / 10688328
head and neck tumor1 / 1363027
kidney tumor5 / 6895972
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma5 / 7175569
non-neoplasia3 / 9725030
normal93 / 336030727
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder1 / 2975733
blood3 / 12347824
bone3 / 7165541
bone marrow0 / 488010 
brain22 / 110098919
cervix0 / 481710 
connective tissue5 / 14925533
ear35 / 162122158
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye16 / 21105475
heart0 / 896260 
intestine2 / 2344728
kidney5 / 21177723
larynx0 / 241450 
liver0 / 2077430 
lung4 / 33697411
lymph5 / 44270112
lymph node2 / 9161021
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta9 / 28082532
prostate9 / 18934547
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach2 / 9661920
testis1 / 3304423
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213622_at
Cell line Expression level Expression bar
721_B_lymphoblasts19.5
Adipocyte3.35
AdrenalCortex3.45
Adrenalgland2.8
Amygdala14.15
Appendix3.35
AtrioventricularNode2.5
BDCA4+_DentriticCells3.85
Bonemarrow3.3
BronchialEpithelialCells3.35
CD105+_Endothelial3.75
CD14+_Monocytes3.7
CD19+_BCells(neg._sel.)6.85
CD33+_Myeloid5.05
CD34+4.35
CD4+_Tcells3.8
CD56+_NKCells4.1
CD71+_EarlyErythroid3.2
CD8+_Tcells3.25
CardiacMyocytes4.2
Caudatenucleus16.45
Cerebellum2.7
CerebellumPeduncles3.85
CiliaryGanglion2.35
CingulateCortex9.9
Colorectaladenocarcinoma3.35
DorsalRootGanglion2.5
FetalThyroid3.45
Fetalbrain3.5
Fetalliver2.95
Fetallung2.9
GlobusPallidus2.5
Heart4.25
Hypothalamus20.2
Kidney2.7
Leukemia_chronicMyelogenousK-5623.05
Leukemia_promyelocytic-HL-603.55
Leukemialymphoblastic(MOLT-4)2.75
Liver4.45
Lung3.75
Lymphnode2.9
Lymphoma_burkitts(Daudi)4.35
Lymphoma_burkitts(Raji)17.75
MedullaOblongata16.65
OccipitalLobe11.55
OlfactoryBulb2.7
Ovary2.35
Pancreas2.75
PancreaticIslet3.6
ParietalLobe10.2
Pituitary7.6
Placenta3.5
Pons3.65
PrefrontalCortex24.75
Prostate5.6
Salivarygland3
SkeletalMuscle3.8
Skin2.8
SmoothMuscle3.8
Spinalcord52.55
SubthalamicNucleus3.25
SuperiorCervicalGanglion3.8
TemporalLobe3.1
Testis2.9
TestisGermCell2.9
TestisIntersitial2.85
TestisLeydigCell3.3
TestisSeminiferousTubule2.95
Thalamus53.15
Thymus2.65
Thyroid5.5
Tongue3.3
Tonsil3.4
Trachea6.55
TrigeminalGanglion3.3
Uterus2.8
UterusCorpus3.8
WholeBlood3.65
Wholebrain4.65
colon3.45
pineal_day4.28
pineal_night4.14
retina154.35
small_intestine3.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10863_PI416261804
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala5.27 ± 0.8
Basal Forebrain5.88 ± 0.43
Basal Part of Pons5.55 ± 0.64
Cerebellar Cortex4.84 ± 0.32
Cerebellar Nuclei6.31 ± 0.63
Claustrum5.72 ± 0.42
Epithalamus5.57 ± 0.45
Frontal Lobe5.28 ± 0.75
Globus Pallidus7.38 ± 0.44
Hypothalamus5.02 ± 0.31
Insula4.86 ± 0.54
Limbic Lobe5.11 ± 0.78
Mesencephalon5.77 ± 0.82
Myelencephalon5.58 ± 0.71
Occipital Lobe5.59 ± 0.68
Parietal Lobe5.41 ± 0.72
Pontine Tegmentum5.5 ± 0.7
Striatum6.21 ± 0.72
Subthalamus5.97 ± 0.18
Temporal Lobe5.24 ± 0.58
Thalamus5.81 ± 0.49
White Matter7.77 ± 0.56
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Col9a2CBCerebellum18.75
31.66
Col9a2CTXCerebral cortex24.04
20.82
Col9a2HIPHippocampal region10.42
12.52
Col9a2HPFHippocampal formation13.75
15.92
Col9a2HYHypothalamus25.47
20.73
Col9a2LSXLateral septal complex11.81
10.03
Col9a2MBMidbrain17.08
17.92
Col9a2MYMedulla23.27
29.38
Col9a2OLFOlfactory bulb26.31
26.1
Col9a2PPons18.86
21.5
Col9a2PALPallidum15.47
16.65
Col9a2RHPRetrohippocampal region18.28
19.2
Col9a2sAMYStriatum-like amygdalar nuclei11.48
10.3
Col9a2STRStriatum11.78
10.37
Col9a2STRdStriatum dorsal region9.4
8.53
Col9a2STRvStriatum ventral region19.95
16.02
Col9a2THThalamus8.68
8.72
Peptide Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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